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GENATLAS PHENOTYPE
last update : 23-11-2013
Symbol MDPL
Location 19q13.33
Name mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Corresponding gene POLD1
Main clinical features
  • lack of subcutaneous fat that in early childhood, although all patients had a normal birthweight, with marked decrease in subcutaneous fat contrasted with a marked increase in visceral adipose tissue as demonstrated by MRI
  • clinical and biochemical evidence of insulin resistance, despite having low body mass index (BMI)
  • facial features included mandibular hypoplasia and dental overcrowding, and a high-pitched voice, skin scleroderma and telangiectasia, ligament contractures, osteoporosis, kyphosis/scoliosis
    • Genetic determination not applicable
    Function/system disorder multisystem/generalized
    Type disease
    Remark(s)
  • mutation results in complete loss of polymerase activity but very little loss of exonuclease capacity (PMID: 23770608))